ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.492T>C (p.Asn164=)

gnomAD frequency: 0.00004  dbSNP: rs778007582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310919 SCV000319493 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-03-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519000 SCV003456197 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV002310919 SCV004357498 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995700 SCV004816702 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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